N27I (p.Asn27Ile) variant of PTPN2 (P17706)
N27I (p.Asn27Ile) in PTPN2 (P17706) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N27I (p.Asn27Ile) variant details
- p.Asn27Ile
- TOPMed rs950185463
- gnomAD rs950185463
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- CADD 23.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available